(Q57201776)
Statements
Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy (English)
0 references
Karina Tuz
Charles Lourenco
Abdulrahman Alswaid
Livija Medne
Sheela Nampoothiri
Meral Topçu
Ali Cansu
Sujatha Jagadeesh
Stephen Done
Dan Doherty
Diana R. O’Day
Christine R. Isabella
Ian G. Phelps
Brian J. O’Roak
Jennifer C. Dempsey
Carsten G. Bönnemann
Richard J. Leventer
Gisele E. Ishak
Ian A. Glass
Chad R. Haldeman-Englert
February 2014
0 references